Overview
Join a 55-minute webinar led by Dr. Ana Krivokuca, founder and Head of the Department for Genetic Counseling at the Institute for Oncology and Radiology of Serbia, exploring practical applications of the Human Gene Mutation Database (HGMD) Professional in clinical genetic testing. Examine three detailed neurological disorder case studies demonstrating how to effectively link phenotypes to causative variants, interpret clinically relevant mutations, and identify ethnically relevant variants for gene panel development. Learn about the database's quarterly updates and expert curation process while discovering how this comprehensive resource helps prevent devastating misdiagnoses through accurate variant interpretation. Gain valuable insights from Dr. Krivokuca's extensive experience in genomic data interpretation, variant annotation, and genetic counseling, particularly in breast and ovarian cancer research. Understand how to navigate the challenges of variant interpretation in modern medicine and implement professional guidelines using HGMD Professional as a reliable, regularly updated reference database for clinical applications.
Syllabus
Case studies: Real world examples of how labs can use HGMD Professional to mitigate errors in...
Taught by
Labroots